Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002736 (amyotrophic lateral sclerosis)
 19,048 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hemopexin, a serum glycoprotein that binds free heme and transports it to hepatic parenchymal cells, has been measured by radial immunodiffusion. We have confirmed elevation of serum hemopexin concentration in Duchenne's muscular dystrophy patients and carries, and demonstrated elevations in dermatomyositis/polymyositis and myasthenia gravis, but not in amyotrophic lateral sclerosis. In monkeys, elevations of hemopexin levels were specifically induced by hematin injections, muscle-crush, or myoglobin injections. Myoglobin leakage is the likely explanation of hemopexin level elevation in Duchenne's dystrophy patients and carriers and in dermatomyositis/polymyositis. In myasthenia gravis there might be a slight myoglobin leakage not heretofore suspected; or, the elevation of hemopexin levels might be a new reflection of a dysimmune state in myasthenia gravis, and perhaps as such is a further incrementing factor in dermatomyositis/polymyositis. Hemopexin, presumably as a longer-phase reactant, is sometimes an index of neuromuscular disease when other data are negative or equivocal.
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PMID:Elevations of hemopexin levels in neuromuscular disease. 9 25

The remote effects of cancer on the neuromuscular system include type II muscle fiber atrophy, dermatomyositis/polymyositis, myasthenia gravis, the facilitating myasthenic syndrome, peripheral neuropathy (including amyloid neuropathy), and possibly amyotrophic lateral sclerosis. The clinical and pathological findings and a number of possible pathokinetic mechanisms of these disorders are discussed. In none is the pathokinetic mechanism known. Hence, much work remains in therapeutically oriented research of the mechanisms in all of the remote effects of cancer on the neuromuscular system.
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PMID:Remote effects of focal cancer on the neuromuscular system. 18 Jul 75

In 200 patients with neuromuscular diseases the author studied malonic dehydrogenase and lactic dehydrogenase activity comparing it with the activity of serum creatine kinase and aldolase. A significant rise in the values of all these enzymes was found only in the Duchenne type of muscular dystrophy, in polymyositis, and less frequently in the limb-girdle type of muscular dystrophy. Raised activity of creatine kinase and sidolase was observed in mothers and sisters of patients with Duchenne type of dystrophy, in patients with non-progressive myopathy, periodic paralysis, amyotrophic lateral sclerosis and polyneuropathy. With progression of dystrophy the activity of these enzymes decreases.
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PMID:[Serum enzymatic activity in neuromuscular diseases]. 112 44

There have been several reports concerning elevated glucose 6 phosphate dehydrogenase (G6PDH), the rate-limiting enzyme of pentose phosphate pathway (PPP), in experimental muscle disturbances. PPP produces ribose, a substrate of RNA, and NADPH which is a cofactor of fatty acid synthesis. PPP also has a role of by-path pathway of glycolysis. Then, we evaluated G6PDH activity and RNA content in biopsied quadriceps muscle. The subjects were muscles from 23 neurogenic amyotrophy, 54 myopathy including 19 progressive muscular dystrophy (PMD), and 10 controls whose muscle was obtained at orthopedic surgery. Neurogenic amyotrophy consisted of 12 amyotrophic lateral sclerosis (ALS), 4 spinal muscular atrophy and 7 peripheral nerve disorders. Myopathy were 3 Duchenne dystrophy, 2 congenital muscular dystrophy, 8 limb-girdle type dystrophy, 6 facio-scapular +-humeral muscular dystrophy, 6 myotonic dystrophy, 6 mitochondrial myopathy, 5 endocrinological myopathy, 3 hypokalemic myopathy, 8 polymyositis and 4 other inflammatory myopathy. The assays of G6PDH and RNA were performed after Glock's and Fleck's methods, respectively. The control values were 3.6 +/- 0.8 nmol formed NADPH/mg protein/min (M +/- SD) in G6PDH and 0.69 +/- 0.17 micrograms/mg non-collagen protein in RNA. Most cases of PMD, as well as some cases of ALS, hyperthyroidism, mitochondria hypokalemic myopathy, inflammatory myopathy showed increased values (beyond M + 2SD of control) both in G6PDH and RNA. There were significant positive correlations between G6PDH activity and RNA content in PMD and motor neuron disease. Myotonic dystrophy showed normal values in both G6PDH and RNA. Half number of cases of mitochondrial myopathy demonstrated increased G6PDH alone.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Pentose phosphate pathway in neuromuscular diseases--evaluation of muscular glucose 6-phosphate dehydrogenase activity and RNA content]. 170 36

We screened 140 patients with different neurological diseases for the presence of anti HTLV-1 virus antibodies. ELISA test confirmed with Western Blot analysis was performed in CSF and blood. Positive findings were obtained in 23 out of 52 patients with progressive spastic paraparesis (44%). All patients with multiple sclerosis, polymyositis, amyotrophic lateral sclerosis or chronic polyneuropathy were negative. Patients with progressive spastic paraparesis and positive HTLV-1 antibodies were most commonly women (78%) and middle aged (mean 46 years old), with a history of surgical interventions (70%) or blood transfusion (35%). A slowly progressive spastic paraparesis with asymmetric onset and minimal sensory complaints was observed in some cases. Mononuclear pleocytosis in the CSF was observed in 35% with an increased IgG index in 88%. A delayed latency and low amplitude of somatosensory evoked potentials was observed in 89% of patients.
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PMID:[HTLV-I retrovirus in Chile: study on 140 neurological patients]. 177 82

We measured with a radioimmunoassay the concentrations of carbonic anhydrase III (CA-III, EC 4.2.1.1) in sera from 68 patients with muscular dystrophy, 10 carriers of Duchenne muscular dystrophy (DMD), and 63 patients with other neurological disorders. The values obtained were compared with those for creatine kinase (CK, EC 2.7.3.2). Serum CA-III was strikingly increased in patients with DMD (mean, 274.4 micrograms/L) and congenital (Fukuyama-type) (182.8 micrograms/L) and limb-girdle (203.7 micrograms/L) dystrophies and positively correlated with the activities of CK in patients with DMD. CA-III concentration decreased with the subjects' age and the severity of the disease, similar to the tendency observed between age or severity and the concentration of CK. We found moderately increased CA-III in patients with polymyositis, myotonic dystrophy, amyotrophic lateral sclerosis, spinal progressive muscular atrophy, or Kugelberg-Welander disease and in carriers of DMD.
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PMID:Carbonic anhydrase III in serum in muscular dystrophy and other neurological disorders: relationship with creatine kinase. 189 62

We evaluated glutamine synthetase (GS) and alanine aminotransferase (GPT) activities in biopsied muscle from 40 cases of various neuromuscular diseases. GS and GPT catalyze the synthesis of glutamine and alanine, respectively, from amino acids derived in part from the breakdown of muscle proteins. The subjects were 7 cases of muscular dystrophy; 1 Duchenne type (DMD), 3 limb-girdle type, 2 facioscapulohumeral type (FSH), 1 Fukuyama type (FCMD); and 1 myotonic dystrophy (MyD); 5 mitochondrial myopathies; 11 inflammatory myopathies including 6 polymyositis and 3 myopathy associated with collagen disease; 5 endocrinological myopathies including 2 periodic paralysis; and, 11 cases of neurogenic amyotrophies [4 amyotrophic lateral sclerosis (ALS), 4 spinal progressive muscular atrophy (SPMA) and 3 other types]. Control subjects were 8 patients with thigh operations. Biopsied muscle was homogenized and assayed for GS activity by the method of Smith et al.; GPT was assayed by commercial kit. Protein was assayed by the method of Lowry et al. Enzyme activities between mean -2SD and mean +2SD of controls were considered to be the normal range. GS activity in control subjects was 28.22 +/- 7.13 (mean +/- SD) nmol glutamine formed/mg protein/hr. Fifteen of 40 cases showed increased enzyme activity, including DMD and FCMD, the acute phase of polymyositis, and periodic paralysis. GPT activity in controls was 16.56 +/- 4.05 IU/mg protein. Sixteen of 40 patients showed increased enzyme activity: FCMD, FSH, MyD, inflammatory and endocrinological myopathy, and ALS. On the other hand, mitochondrial myopathy showed significantly decreased activity.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Studies on enzyme activities relating to amino acid mobilization in biopsied muscles]. 198 Jun 44

Chest wall movement and respiratory muscle strength in patients with neuromuscular diseases was studied. Amyotrophic lateral sclerosis, myasthenia gravis and polymyositis were included. Anterior-posterior (AP) and lateral (LT) diameters of the chest wall were measured at the levels of the 2nd and 5th rib, and the abdomen, using 6 pairs of pneumo-magnetometer. Paradoxical movement of LT was often observed in most diseases. Furthermore, both AP and LT of the abdomen showed a paradoxical movement. This paradoxical movement was augmented in resistive loaded breathing and maximum voluntary ventilation. Baseline pulmonary function was minimally disturbed, except for an increase in RV. However, maximum respiratory muscle strength of both inspiratory and expiratory muscles was decreased to approximately 40% of the predicted. This study suggests that neuromuscular diseases may involve the respiratory muscle in the relatively early stage of the disease.
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PMID:[Chest wall mechanics in neuromuscular disease]. 206 47

We synthesized 3 peptide fragments predicted by residues 2354-2368 (peptide I), 2310-2324 (peptide II) and 2255-2269 (peptide III) on the mid-portion of the human dystrophin cDNA map where the most frequent intragenic deletions occurred in Duchenne muscular dystrophy. Rabbit antibodies against these peptides were raised and cryosections of 47 biopsied muscles were studied immunohistochemically. The 47 biopsied muscles included the quadriceps femoris muscles of 8 Duchenne muscular dystrophy patients, 8 child and 5 adult normal controls, 1 facioscapulohumeral dystrophy, 2 limb girdle dystrophy, 3 myotonic dystrophy, 3 polymyositis, 1 mitochondrial myopathy, 1 nemaline myopathy, 3 amyotrophic lateral sclerosis and the extensor digitorum longus muscles of 6 mdx mice (C57BL/10ScSn-mdx) and 6 normal control mice (C57BL/10ScSn). The peptide I antiserum continuously stained the myofiber surface membranes in 8 child and 5 adult normal control muscles, and in 14 other muscles from various neuromuscular diseases, but failed to stain the surface membranes in normal control mice. The surface membranes of 8 Duchenne muscles were not stained by the peptide I antiserum except for a few myofibers. Although the ELISA titers of peptide I, II and III antibodies were high, immunostaining by peptide II antiserum showed no reaction in the myofibers of any of the biopsied muscles, and immunostaining by peptide III antiserum revealed faint reactions on the myofiber surface membranes of all biopsied muscles, including the mdx control mouse muscles except for the Duchenne and mdx myofibers.
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PMID:Immunoreactivity of antibodies raised against synthetic peptide fragments predicted from mid portions of dystrophin cDNA. 220 9

Slow Ca-dependent action potentials were studied in skeletal muscle fibers from different Neuromuscular Diseases (NMD). Biopsies were obtained from: 3 myopathies [Fascioscapulohumeral Dystrophy (FSH) and Polymyositis (PM)], 6 patients with other diseases (CD) [Amyotrophic Lateral Sclerosis (ALS), Central Core Disease, Mitochondrial Myopathy, Polyneuritis (PN), von Eulenberg's Paramyotonia], and 8 normal control muscles. Experiments were carried out in muscle fibers under current-clamp conditions. Membrane currents other than Ca ones were abolished or greatly diminished. Muscle fibers produced any of 3 types of responses, when stimulated by depolarizing pulses: fully developed Ca-action potentials (CaAP), abortive non-regenerative Ca responses (NrR), or only capacitive passive responses (WR). The 3 types of responses were not dependent on the basal conditions of the fibers. The frequency of observation of CaAPs was significantly higher in myopathic disease. In myopathies, 46% of the muscle fibers had CaAPs, while only 22% of fibers from CD and 15% of the fibers from normal muscles showed CaAPs. No differences were observed in the resting constants as well as in the CaAPs parameters between normal and diseased muscle fibers.
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PMID:Ca-dependent slow action potentials in neuromuscular diseases. 235 76


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